Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

被引：105

作者：

Marangi, Giuseppe ^{[1
,2
]}

Traynor, Bryan J. ^{[1
,3
]}

机构：

[1] NIA, Neuromuscular Dis Res Sect, Neurogenet Lab, Bethesda, MD 20892 USA

[2] Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy

[3] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD USA

来源：

BRAIN RESEARCH | 2015年 / 1607卷

关键词：

Amyotrophic lateral sclerosis; Gene discovery; Genetic heterogeneity; GWAS; NGS; Somatic mosaicism; GENOME-WIDE ASSOCIATION; DE-NOVO MUTATIONS; COPY NUMBER VARIATION; FRONTOTEMPORAL LOBAR DEGENERATION; HEXANUCLEOTIDE REPEAT EXPANSION; HEAVY NEUROFILAMENT SUBUNIT; HOMOZYGOUS SMN2 DELETION; SUPEROXIDE-DISMUTASE; RISK-FACTOR; SQSTM1; MUTATIONS;

D O I：

10.1016/j.brainres.2014.10.009

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The genetic architecture of amyotrophic lateral sclerosis (ALS) is being increasingly understood. In this far-reaching review, we examine what is currently known about ALS genetics and how these genes were initially identified. We also discuss the various types of mutations that might underlie this fatal neurodegenerative condition and outline some of the strategies that might be useful in untangling them. These include expansions of short repeat sequences, common and low-frequency genetic variations, de novo mutations, epigenetic changes, somatic mutations, epistasis, oligogenic and polygenic hypotheses. This article is part of a Special Issue entitled ALS complex pathogenesis. Published by Elsevier B.V.

引用

页码：75 / 93

页数：19

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